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Chromosome 14q11.2‐q21.1 duplication: a rare cause of West syndrome
Author(s) -
Çetin Özdem Ertürk,
Yalçınkaya Cengiz,
Karaman Birsen,
Demirbilek Veysi,
Tüysüz Beyhan
Publication year - 2018
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2018.0972
Subject(s) - gene duplication , craniofacial , speech delay , epilepsy , craniofacial abnormality , global developmental delay , abnormality , etiology , chromosome , medicine , west syndrome , pediatrics , genetics , biology , neuroscience , pathology , phenotype , gene , psychiatry
Proximal duplication of chromosome 14q, including the FOXG1 gene located on 14q12, is a rare condition characterised by developmental delay, dysmorphic craniofacial features, epilepsy, and severe speech delay. Here, we report a patient with West syndrome whose chromosome analysis revealed 14q11.2‐21.1 duplication. The patient was admitted due to infantile epileptic spasms at eight months of age, motor developmental delay, and dysmorphic features. Chromosome and array‐CGH analysis revealed de novo 14q11.2‐21.1 duplication, spanning ∼20 Mb (minimal interval chr14:20203610_40396835). The patient was followed up to 13 years of age, and at the last examination was shown to have severe speech delay, seizures, and continuous spike‐and‐wave activity on EEG. The possibility of this chromosomal abnormality should be kept in mind in patients with developmental delay, epilepsy, and hypsarrtyhmia, in the absence of any structural brain lesion or metabolic aetiology.